ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.774G>T (p.Glu258Asp) (rs397516809)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159049 SCV000208991 pathogenic not provided 2015-09-29 criteria provided, single submitter clinical testing The E258D missense mutation in the PTPN11 gene has been reported previously in association with Noonan syndrome (Jongmans et al., 2011). The variant is found in PTPN11 panel(s).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037656 SCV000061318 likely pathogenic Noonan syndrome 2015-02-23 criteria provided, single submitter clinical testing The p.Glu258Asp variant in PTPN11 has been reported in 3 Dutch individuals with Noonan syndrome (Jongmans 2011) and identified by our laboratory in 1 Ashkenazi Jewish adult with a clinical diagnosis of Noonan syndrome (LMM, unpublished data ). It was absent from large population studies. Computational prediction tools a nd conservation analysis suggest that this variant may impact the protein, thoug h this information is not predictive enough to determine pathogenicity. In summa ry, although additional studies are required to fully establish its clinical sig nificance, the p.Glu369Asp variant is likely pathogenic.

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